HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585392T>C , CM000667.2:g.93585392T>C | GRCh38 |
NC_000005.9:g.92921098T>C , CM000667.1:g.92921098T>C | GRCh37 |
NC_000005.8:g.92946854T>C | NCBI36 |
NG_034119.1:g.7056T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.294T>C | ENSP00000481517.1:p.Arg98= | |
ENST00000327111.8:c.369T>C MANE Select | ENSP00000325819.3:p.Arg123= | |
ENST00000647447.1:c.216T>C | ENSP00000495740.1:p.Arg72= | |
ENST00000327111.7:c.369T>C | ENSP00000325819.3:p.Arg123= | |
ENST00000615873.1:c.294T>C | ENSP00000481517.1:p.Arg98= | |
NM_005654.5:c.369T>C | NP_005645.1:p.Arg123= | |
NM_005654.6:c.369T>C MANE Select | NP_005645.1:p.Arg123= |